Volume 153, Issue 2, Pages 609-611.e3 (August 2017) First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease  Marianna Parlato  Gastroenterology  Volume 153, Issue 2, Pages 609-611.e3 (August 2017) DOI: 10.1053/j.gastro.2016.12.053 Copyright © 2017 AGA Institute Terms and Conditions

Figure 1 (A) Hematoxylin stained colonic biopsies from patient and healthy control (scale bar, 100 μm). (B) Pedigree of patient's family. (C) Electropherograms of DNA sequencing reactions. (D) Topologic DUOX2 model featuring novel and previously reported VEO-IBD–causative variants. E, Surface expression of HA-DUOX2 wild type and variants by flow cytometry. (F) Immunofluorescence microscopy of DUOX1/2-immunostained (and DAPI) colon tissues sections from patient, healthy control, CD control and ulcerative colitis control (scale bar, 100 μm; boxed magnification, 1.5; arrow, apical membrane). G, H2O2 release by stimulated DUOX2 WT and variants. Error bars ± standard deviation (n = 3); *P ≤ .05; **P ≤ .01; ***P ≤ .001; ****P ≤ .0001. CD, Crohn disease; CH, congenital hypothyroidism; VEO-IBD, very early onset inflammatory bowel disease; WES, whole exome sequencing. Gastroenterology 2017 153, 609-611.e3DOI: (10.1053/j.gastro.2016.12.053) Copyright © 2017 AGA Institute Terms and Conditions

Supplementary Figure 1 (A) Multiple alignment of DUOX2 orthologs using the Clustal Omega software. Residues altered by mutations in patient are boxed in red and indicated as full identity (*), similar characteristics (:), weak similarities (.). (B) HA-DUOX2 wild type and variants expression by Western blot. Gastroenterology 2017 153, 609-611.e3DOI: (10.1053/j.gastro.2016.12.053) Copyright © 2017 AGA Institute Terms and Conditions